Results 71 to 80 of about 92,072 (315)

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome

The Turkish Journal of Pediatrics, 2019
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder which is characterized by mild-moderate intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia and characteristic facial appearance.
Semra Gürsoy, Yaşar Bekir Kutbay, Taha Reşid Özdemir, Filiz Hazan   +3 more
doaj   +1 more source

A Report on a Family with TMTC3-Related Syndrome and Review

Case Reports in Medicine, 2020
Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either
Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane   +5 more
doaj   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Motor Deficits of Girls with Down Syndrome in Comparing with Girls with Intellectual Disability in the School Ages Children

Journal of Rehabilitation, 2014
Objective: Motor function in children with Down syndrome is similar to mentally retarded children. But the movements are slower and have lower quality. The purpose of this study was to identify weaknesses in motor function in children with Down syndrome,
Tahereh Daftari-Anbardan, Fatemeh Behnia, Firouzeh Sajedi, Mehdi Rassafiani, Akbar Biglarian   +4 more
doaj  

Delay of gratification: a comparison study of children with Down syndrome, moderate intellectual disability and typical development

, 2016
BackgroundSelf-regulation has been found to be an important contributor to a range of outcomes, with delay of gratification (a self-regulatory skill) predicting better academic, social and personal functioning.
Jobling, Anne, Cuskelly, Monica, Gilmore, Linda, Glenn, S., Jobling, A., Glenn, Sheila, Gilmore, L., Cuskelly, M.   +7 more
core   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Cuproptosis and Mitophagy Mediated by the THUMPD1/IGF2R‐Dependent Suppression of AKT and Activation of AMPK Signaling Suppress Lung Adenocarcinoma Progression

Advanced Science, EarlyView.
THUMPD1 drives a tumor‐suppressive signaling cascade in lung adenocarcinoma by promoting IGF2R expression. IGF2R associates with PPP2R1A to suppress AKT and activate AMPK, leading to SLC31A1 upregulation and copper accumulation. Elevated copper disrupts mitochondrial metabolism and induces excessive mitophagy, thereby restraining tumor growth and ...
Kai Wu, Bo Qin, Zhuoyu Gu, Weizheng Ding, Xiaoming Chen, Kaishang Zhang, Yujin Qiao, Shuang Yuan, Song Zhao, Xiangnan Li, Peng Zhang   +10 more
wiley   +1 more source

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

Frontiers in Neurology, 2020
SETBP1 mutations are associated with the Schinzel-Giedion syndrome (SGS), characterized by profound neurodevelopmental delay, typical facial features, and multiple congenital malformations (OMIM 269150).
Emanuela Leonardi, Emanuela Leonardi, Elisa Bettella, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Maria Cristina Aspromonte, Roberta Polli, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia, Alessandra Murgia   +13 more
doaj   +1 more source

The impact of ageing in people with intellectual and developmental disability

, 2008
In the countries of Western Europe, death rates declined rapidly during the 20th century, resulting in present-day life expectancies that typically range from 75- 79 years for males and 80-84 years for females.
Glasson, E., Bittles, A.H.
core  

Child behavior problems and parental well-being in families of children with autism : the mediating role of mindfulness and acceptance [PDF]

, 2014
Few research studies have explored how the level of a child's behavior problems leads to psychological distress in parents of children with autism. The authors explored whether psychological acceptance and mindfulness mediated this relationship between ...
Totsika, Vasiliki, Jones, Leah, Hastings, Richard P., Keane, Lisa, Rhule, Neisha, Hastings, Richard Patrick; id_orcid   +5 more
core   +1 more source